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GM1 gangliosidosis type 3

Disease definition

GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.

ORPHA:79257

  • Synonym(s):
    • Adult-onset GM1 gangliosidosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E75.1
  • OMIM: 230650
  • UMLS: -
  • MeSH: -
  • GARD: 2431
  • MedDRA: -

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